Matches in SemOpenAlex for { <https://semopenalex.org/work/W1988999751> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W1988999751 endingPage "158" @default.
- W1988999751 startingPage "156" @default.
- W1988999751 abstract "Pelizaeus-Merzbacher-like syndrome is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients' clinical phenotype is indistinguishable from classical Pelizaeus-Merzbacher disease (PMD), but the patients lack PLP1 gene duplications or mutations. They represent about 20% of all cases with a clinical PMD phenotype. The M6b gene has been localized to Xp22.2. The encoded M6B protein is a member of a novel proteolipid family that also includes other major brain myelin components like the proteolipid protein (PLP). Recent cotransfection experiments suggest a protein-protein interaction of M6B and mutant PLP1 that may contribute to oligodendrocyte dysfunction in PMD. Therefore, M6b has been considered a good candidate gene for Pelizaeus-Merzbacher-like syndrome. However, our molecular analyses in eight thoroughly characterized patients make it unlikely that mutations in this gene are involved in this subgroup of human hypomyelination disorders." @default.
- W1988999751 created "2016-06-24" @default.
- W1988999751 creator A5018846778 @default.
- W1988999751 creator A5022197278 @default.
- W1988999751 creator A5030328208 @default.
- W1988999751 creator A5051610713 @default.
- W1988999751 creator A5079537507 @default.
- W1988999751 date "2004-05-11" @default.
- W1988999751 modified "2023-09-24" @default.
- W1988999751 title "Mutation analysis of theM6bgene in patients with Pelizaeus-Merzbacher-like syndrome" @default.
- W1988999751 cites W1981372983 @default.
- W1988999751 cites W2020789006 @default.
- W1988999751 cites W2024892377 @default.
- W1988999751 cites W2032362540 @default.
- W1988999751 cites W2042763192 @default.
- W1988999751 cites W2047845962 @default.
- W1988999751 cites W2056253554 @default.
- W1988999751 cites W2060574137 @default.
- W1988999751 cites W2075804288 @default.
- W1988999751 cites W2108244474 @default.
- W1988999751 cites W2316691306 @default.
- W1988999751 doi "https://doi.org/10.1002/ajmg.a.30068" @default.
- W1988999751 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15214007" @default.
- W1988999751 hasPublicationYear "2004" @default.
- W1988999751 type Work @default.
- W1988999751 sameAs 1988999751 @default.
- W1988999751 citedByCount "8" @default.
- W1988999751 countsByYear W19889997512012 @default.
- W1988999751 countsByYear W19889997512014 @default.
- W1988999751 crossrefType "journal-article" @default.
- W1988999751 hasAuthorship W1988999751A5018846778 @default.
- W1988999751 hasAuthorship W1988999751A5022197278 @default.
- W1988999751 hasAuthorship W1988999751A5030328208 @default.
- W1988999751 hasAuthorship W1988999751A5051610713 @default.
- W1988999751 hasAuthorship W1988999751A5079537507 @default.
- W1988999751 hasConcept C104317684 @default.
- W1988999751 hasConcept C127716648 @default.
- W1988999751 hasConcept C134018914 @default.
- W1988999751 hasConcept C142724271 @default.
- W1988999751 hasConcept C143065580 @default.
- W1988999751 hasConcept C2776100374 @default.
- W1988999751 hasConcept C2777426553 @default.
- W1988999751 hasConcept C2778609137 @default.
- W1988999751 hasConcept C2779134260 @default.
- W1988999751 hasConcept C2780876595 @default.
- W1988999751 hasConcept C501734568 @default.
- W1988999751 hasConcept C529278444 @default.
- W1988999751 hasConcept C54355233 @default.
- W1988999751 hasConcept C71924100 @default.
- W1988999751 hasConcept C7821365 @default.
- W1988999751 hasConcept C86803240 @default.
- W1988999751 hasConceptScore W1988999751C104317684 @default.
- W1988999751 hasConceptScore W1988999751C127716648 @default.
- W1988999751 hasConceptScore W1988999751C134018914 @default.
- W1988999751 hasConceptScore W1988999751C142724271 @default.
- W1988999751 hasConceptScore W1988999751C143065580 @default.
- W1988999751 hasConceptScore W1988999751C2776100374 @default.
- W1988999751 hasConceptScore W1988999751C2777426553 @default.
- W1988999751 hasConceptScore W1988999751C2778609137 @default.
- W1988999751 hasConceptScore W1988999751C2779134260 @default.
- W1988999751 hasConceptScore W1988999751C2780876595 @default.
- W1988999751 hasConceptScore W1988999751C501734568 @default.
- W1988999751 hasConceptScore W1988999751C529278444 @default.
- W1988999751 hasConceptScore W1988999751C54355233 @default.
- W1988999751 hasConceptScore W1988999751C71924100 @default.
- W1988999751 hasConceptScore W1988999751C7821365 @default.
- W1988999751 hasConceptScore W1988999751C86803240 @default.
- W1988999751 hasIssue "2" @default.
- W1988999751 hasLocation W19889997511 @default.
- W1988999751 hasLocation W19889997512 @default.
- W1988999751 hasOpenAccess W1988999751 @default.
- W1988999751 hasPrimaryLocation W19889997511 @default.
- W1988999751 hasRelatedWork W2046789209 @default.
- W1988999751 hasRelatedWork W2047833547 @default.
- W1988999751 hasRelatedWork W2051153100 @default.
- W1988999751 hasRelatedWork W2057188689 @default.
- W1988999751 hasRelatedWork W2060397969 @default.
- W1988999751 hasRelatedWork W2150736027 @default.
- W1988999751 hasRelatedWork W2280086951 @default.
- W1988999751 hasRelatedWork W2394797755 @default.
- W1988999751 hasRelatedWork W327472322 @default.
- W1988999751 hasRelatedWork W57895776 @default.
- W1988999751 hasVolume "128A" @default.
- W1988999751 isParatext "false" @default.
- W1988999751 isRetracted "false" @default.
- W1988999751 magId "1988999751" @default.
- W1988999751 workType "article" @default.